ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2547C>A (p.Asp849Glu)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004661273 SCV005158861 uncertain significance Cardiovascular phenotype 2024-06-20 criteria provided, single submitter clinical testing The p.D849E variant (also known as c.2547C>A), located in coding exon 22 of the RYR2 gene, results from a C to A substitution at nucleotide position 2547. The aspartic acid at codon 849 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.